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rs74315488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315488(G;T)
Make rs74315488(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position26599591
GeneCRYBB1
is asnp
is mentioned by
dbSNPrs74315488
ebirs74315488
HLIrs74315488
Exacrs74315488
Varsomers74315488
Maprs74315488
PheGenIrs74315488
hapmaprs74315488
1000 genomesrs74315488
hgdprs74315488
ensemblrs74315488
gopubmedrs74315488
geneviewrs74315488
scholarrs74315488
googlers74315488
pharmgkbrs74315488
gwascentralrs74315488
openSNPrs74315488
23andMers74315488
23andMe allrs74315488
SNP Nexus

SNPshotrs74315488
SNPdbers74315488
MSV3drs74315488
GWAS Ctlgrs74315488
Max Magnitude0
OMIM600929
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315488(T;T)
Alt rs74315488(T;T)
Reference rs74315488(G;G)
Significance Pathogenic
Disease Cataract
Variation info
Gene CRYBB1
CLNDBN Cataract, congenital nuclear, autosomal recessive 3
Reversed 1
HGVS NC_000022.10:g.26995555C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009224.3,